The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease, Neurology, Psychiatric |
| Therapuetic Areas: | Immunology / Infectious Diseases, Neurology, Psychiatry / Psychology |
| Healthy: | No |
| Age Range: | 5 - Any |
| Updated: | 3/1/2019 |
| Start Date: | February 2013 |
| End Date: | June 2020 |
| Contact: | Kris Engelstad, MS |
| Email: | NAMDC@columbia.edu |
| Phone: | 212-305-6834 |
The Rare Disease Clinical Research Network Natural History Study of MNGIE
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal
Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The
investigators hope to learn more about the disease of MNGIE as well as develop useful
measures of disease status for use in future clinical trials.
Additional clinical centers will be listed as they become available.
Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The
investigators hope to learn more about the disease of MNGIE as well as develop useful
measures of disease status for use in future clinical trials.
Additional clinical centers will be listed as they become available.
The investigators will examine a total of 20 patients at six month intervals for up to five
years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy,
neuropsychological capability, quality of life, nutrition, motor function and biochemical
parameters.
years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy,
neuropsychological capability, quality of life, nutrition, motor function and biochemical
parameters.
Inclusion Criteria:
1. Thymidine Phosphorylase (TP) defect:
1. homozygous or
2. compound heterozygous mutations in the TYMP gene, and/or
3. TP enzyme activity of <20% of normal.
2. Increased plasma Thd > 3 micromole/L
3. Increased plasma dUrd > 7.5 micromole/L
4. Age requirement of at least 5 years of age.
Exclusion Criteria:
1. Participation in an interventional (study medication or other experimental
intervention) study (within 1 month of participation in this study).
2. Unable to travel to site for research visits.
3. Unwillingness to sign informed consent form.
4. Substance abuser
We found this trial at
1
site
116th St and Broadway
New York, New York 10027
New York, New York 10027
(212) 854-1754
Principal Investigator: Michio Hirano, MD
Phone: 212-305-6834
Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
Click here to add this to my saved trials
